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    CSF1 colony stimulating factor 1 [ Homo sapiens (human) ]

    Gene ID: 1435, updated on 11-Apr-2024

    Summary

    Official Symbol
    CSF1provided by HGNC
    Official Full Name
    colony stimulating factor 1provided by HGNC
    Primary source
    HGNC:HGNC:2432
    See related
    Ensembl:ENSG00000184371 MIM:120420; AllianceGenome:HGNC:2432
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MCSF; CSF-1; PG-M-CSF
    Summary
    The protein encoded by this gene is a cytokine that controls the production, differentiation, and function of macrophages. The active form of the protein is found extracellularly as a disulfide-linked homodimer, and is thought to be produced by proteolytic cleavage of membrane-bound precursors. The encoded protein may be involved in development of the placenta. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011]
    Expression
    Ubiquitous expression in placenta (RPKM 19.9), spleen (RPKM 19.7) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See CSF1 in Genome Data Viewer
    Location:
    1p13.3
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (109910506..109930992)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (109920642..109941109)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (110453471..110473614)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1453 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1454 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1159 Neighboring gene NADH:ubiquinone oxidoreductase subunit A5 pseudogene 10 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1160 Neighboring gene long intergenic non-protein coding RNA 1768 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:110407495-110408040 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:110420113-110420301 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:110422869-110423369 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:110423473-110424313 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:110424314-110425153 Neighboring gene CRISPRi-validated cis-regulatory element chr1.7635 Neighboring gene Sharpr-MPRA regulatory region 12342 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1455 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1456 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:110454181-110454681 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:110453680-110454180 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1457 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:110473698-110474646 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:110502441-110503012 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:110503013-110503582 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1163 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1164 Neighboring gene adenosylhomocysteinase like 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1458 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:110560640-110561839 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1459 Neighboring gene uncharacterized LOC105378895 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1460 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1165 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1166 Neighboring gene striatin interacting protein 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Genome-wide association identifies three new susceptibility loci for Paget's disease of bone.
    EBI GWAS Catalog
    Genome-wide association study identifies variants at CSF1, OPTN and TNFRSF11A as genetic risk factors for Paget's disease of bone.
    EBI GWAS Catalog
    Genome-wide association study of sensory disturbances in the inferior alveolar nerve after bilateral sagittal split ramus osteotomy.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    HIV-1 infection (VSV-G pseudotyped) of CEMT4 T cells downregulates plasma membrane expression of CSF1 PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env Gp120-induced M-CSF downregulates the TRAIL receptor TRAIL-R1/DR4 and upregulates the anti-apoptotic genes Bfl-1 and Mcl-1 PubMed
    env HIV-1 gp120 envelope protein induces macrophage colony-stimulating factor (M-CSF) in HIV-1-infected macrophages PubMed
    Tat tat HIV-1 Tat and RANKL/M-CSF enhance osteoclast differentiation and activity by increasing osteoclast differentiation markers, such as cathepsin K and calcitonin receptor, and TRAP PubMed
    tat Co-treatment of osteoblastic cells with HIV-1 Tat and RANKL/M-CSF upregulates c-fos expression and AP-1 activity PubMed
    Vif vif HIV-1 Vif upregulates the expression of colony stimulating factor 1 (CSF1) in Vif-expression T cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC31930

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cytokine activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables cytokine activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables growth factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables macrophage colony-stimulating factor receptor binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    enables macrophage colony-stimulating factor receptor binding TAS
    Traceable Author Statement
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in Ras protein signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in branching involved in mammary gland duct morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell surface receptor protein tyrosine kinase signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in developmental process involved in reproduction ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in homeostasis of number of cells within a tissue IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in inflammatory response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in innate immune response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in macrophage colony-stimulating factor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in macrophage differentiation TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in macrophage homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mammary duct terminal end bud growth IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mammary gland fat development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in microglial cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in monocyte activation NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in monocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in monocyte homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in myeloid leukocyte migration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neutrophil homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in osteoclast differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in osteoclast differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in osteoclast proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of Ras protein signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of cell migration ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of cell population proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of cell population proliferation TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of cell-matrix adhesion ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in positive regulation of gene expression IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of macrophage chemotaxis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of macrophage colony-stimulating factor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of macrophage derived foam cell differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of macrophage differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of macrophage differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of macrophage migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of microglial cell migration IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of monocyte differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in positive regulation of mononuclear cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of multicellular organism growth IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of odontogenesis of dentin-containing tooth IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of osteoclast differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of protein kinase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in positive regulation of protein metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of macrophage derived foam cell differentiation NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in regulation of ossification IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to ischemia IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of CSF1-CSF1R complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    located_in endoplasmic reticulum lumen TAS
    Traceable Author Statement
    more info
     
    located_in extracellular region TAS
    Traceable Author Statement
    more info
     
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in nuclear body IDA
    Inferred from Direct Assay
    more info
     
    located_in perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    macrophage colony-stimulating factor 1
    Names
    CSF1-hERV-LTR71B fusion protein
    colony stimulating factor 1 (macrophage)
    lanimostim
    macrophage colony stimulating factor 1
    proteoglycan macrophage colony-stimulating factor
    NP_000748.4
    NP_757349.2
    NP_757350.2
    NP_757351.2
    XP_016855858.1
    XP_047302708.1
    XP_054190514.1
    XP_054190515.1
    XP_054190516.1
    XP_054190517.1
    XP_054190518.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_030008.2 RefSeqGene

      Range
      5345..25488
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000757.6NP_000748.4  macrophage colony-stimulating factor 1 isoform a precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a).
      Source sequence(s)
      AL450468
      Consensus CDS
      CCDS816.1
      UniProtKB/Swiss-Prot
      A8K6J5, P09603, Q13130, Q14086, Q14806, Q5VVF3, Q5VVF4, Q9UQR8
      UniProtKB/TrEMBL
      B4DTX0
      Related
      ENSP00000327513.6, ENST00000329608.11
      Conserved Domains (2) summary
      PHA03307
      Location:194470
      PHA03307; transcriptional regulator ICP4; Provisional
      pfam05337
      Location:41180
      CSF-1; Macrophage colony stimulating factor-1 (CSF-1)
    2. NM_172210.3NP_757349.2  macrophage colony-stimulating factor 1 isoform b precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame segment compared to variant 1, resulting in a shorter isoform (b) compared to isoform a.
      Source sequence(s)
      AL450468
      Consensus CDS
      CCDS817.1
      Related
      ENSP00000358816.1, ENST00000369801.1
      Conserved Domains (2) summary
      PHA03247
      Location:202351
      PHA03247; large tegument protein UL36; Provisional
      pfam05337
      Location:41180
      CSF-1; Macrophage colony stimulating factor-1 (CSF-1)
    3. NM_172211.4NP_757350.2  macrophage colony-stimulating factor 1 isoform c precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame segment compared to variant 1, resulting in a shorter isoform (c) compared to isoform a.
      Source sequence(s)
      AL450468
      Consensus CDS
      CCDS30797.1
      Related
      ENSP00000407317.2, ENST00000420111.6
      Conserved Domains (1) summary
      pfam05337
      Location:41180
      CSF-1; Macrophage colony stimulating factor-1 (CSF-1)
    4. NM_172212.3NP_757351.2  macrophage colony-stimulating factor 1 isoform a precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 3' UTR compared to variant 1. Both variants 1 and 4 encode isoform a.
      Source sequence(s)
      AL450468
      Consensus CDS
      CCDS816.1
      UniProtKB/Swiss-Prot
      A8K6J5, P09603, Q13130, Q14086, Q14806, Q5VVF3, Q5VVF4, Q9UQR8
      UniProtKB/TrEMBL
      B4DTX0
      Related
      ENSP00000358817.3, ENST00000369802.7
      Conserved Domains (2) summary
      PHA03307
      Location:194470
      PHA03307; transcriptional regulator ICP4; Provisional
      pfam05337
      Location:41180
      CSF-1; Macrophage colony stimulating factor-1 (CSF-1)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      109910506..109930992
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017000369.1XP_016855858.1  macrophage colony-stimulating factor 1 isoform X1

      UniProtKB/TrEMBL
      B4DTX0
    2. XM_047446752.1XP_047302708.1  macrophage colony-stimulating factor 1 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      109920642..109941109
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054334541.1XP_054190516.1  macrophage colony-stimulating factor 1 isoform X1

    2. XM_054334539.1XP_054190514.1  macrophage colony-stimulating factor 1 isoform X3

    3. XM_054334543.1XP_054190518.1  macrophage colony-stimulating factor 1 isoform X2

    4. XM_054334540.1XP_054190515.1  macrophage colony-stimulating factor 1 isoform X3

    5. XM_054334542.1XP_054190517.1  macrophage colony-stimulating factor 1 isoform X2